TET2
Overview
TET2 (Tet Methylcytosine Dioxygenase 2) encodes an enzyme that catalyzes the conversion of 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), initiating active DNA demethylation. TET2 is a tumor suppressor frequently mutated in myeloid malignancies, including AML, MDS, and myeloproliferative neoplasms, as well as in clonal hematopoiesis of indeterminate potential (CHIP). Loss of TET2 leads to aberrant hypermethylation and dysregulated hematopoietic differentiation.
Alterations observed in the corpus
- TET2 variant co-occurring with a KIT D816H mutation in a pediatric AML patient in the PIPseq pediatric precision sequencing program (n=101, Columbia University). The KIT mutation was the primary actionable target (imatinib). PMID:28007021
Cancer types (linked)
- AML: TET2 variant identified as co-occurring with KIT D816H in one pediatric AML case; KIT was the primary therapeutic target. PMID:28007021
Co-occurrence and mutual exclusivity
- Co-occurred with KIT D816H and FLT3 variants in one pediatric AML; no broader co-mutation pattern analysis reported for this cohort. PMID:28007021
Therapeutic relevance
- No targeted therapy designated specifically for TET2 in the corpus; TET2 co-mutation context did not alter the primary KIT-directed treatment decision. PMID:28007021
Open questions
- The clinical significance of TET2 variants in pediatric AML (versus adult AML where TET2 is more extensively studied) requires larger cohort analysis. PMID:28007021
Sources
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